A51D (p.Ala51Asp) variant of NOTCH1 (P46531)
A51D (p.Ala51Asp) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adams-Oliver syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A51D (p.Ala51Asp) variant details
- p.Ala51Asp
- rs771954465
- ClinGen CA5342240
- ClinVar RCV000798007
- ExAC rs771954465
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available